Article

The Power of Partnership: Democratizing Genetic Prevalence to Empower Patient Advocacy

2026-03-31

Abstract excerpt

<h4>Introduction</h4> Accurate estimation of disease prevalence is crucial for public health and therapeutic development, but traditional methods are often inaccurate. Genetic prevalence, which estimates the proportion of a population with a causal genotype, using allele frequencies from population data, offers an important alternative. <h4>Methods</h4> We partnered with 18 Rare As One patient organizations to e...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c3c54d11-f9f0-5a7f-90e8-b4938e59f6a1
DOI: 10.64898/2026.03.30.26349539

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Power of Partnership: Democratizing Genetic Prevalence to Empower Patient AdvocacyDOI 10.64898/2026.03.30.26349539Read

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.Semantic proximity Read

Expansion of clinical genetic testing since the completion of the human genome projectSemantic proximity Read

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.Semantic proximity Read

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.Semantic proximity Read

Applying an equity lens to pharmacogenetic research and translation to under-represented populations.Semantic proximity Read

Diagnostic yield of genetic screening in a diverse, community-ascertained cohortSemantic proximity Read

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement.Semantic proximity Read

Advancing Understanding of Inequities in Rare Disease GenomicsSemantic proximity Read

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populationsSemantic proximity Read

Genome screening, reporting, and genetic counseling for healthy populations.Semantic proximity Read

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening dataSemantic proximity Read

Implementing Primary Care Mediated Population Genetic Screening within an Integrated Health SystemSemantic proximity Read